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KH
MCID: KPS002
MIFTS: 43

Kaposiform Hemangioendothelioma (KH)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Kaposiform Hemangioendothelioma

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MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 52 58 6 71
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 52
Kaposiform Hemangio-Endothelioma 52
Khe 52
Kh 52

Characteristics:

Orphanet epidemiological data:

58
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537007
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 72 C1367420
Orphanet 58 ORPHA2122
UMLS 71 C1367420
Sources

Summaries for Kaposiform Hemangioendothelioma

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2122 Definition A very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. Visit the Orphanet disease page for more resources.

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and kaposi sarcoma. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Tacrolimus and Calcineurin Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone and skin, and related phenotypes are cardiovascular system and cellular

Wikipedia : 74 A vascular tumor is a tumor of vascular origin; a soft tissue growth that can be either benign or... more...

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Related Diseases for Kaposiform Hemangioendothelioma

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Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 31.8 FLT4 FLI1 CD34
2 kaposi sarcoma 30.5 MTOR KDR FLT4
3 thrombocytopenia 30.0 VWF PECAM1 FLI1 CD34
4 hemangiopericytoma, malignant 29.8 PECAM1 CD34
5 intussusception 29.5 PECAM1 KDR CD34
6 sarcoma 29.4 MTOR KDR FLT4 FLI1
7 lymphangioma 29.2 PROX1 PECAM1 KDR FLT4 CD34
8 kidney cancer 28.9 MTOR KDR FLT4
9 vascular cancer 28.5 VWF PECAM1 KDR FLT4 FLI1 CD34
10 capillary hemangioma 28.4 VWF PROX1 PECAM1 KDR GNA14 FLT4
11 clear cell renal cell carcinoma 28.4 PECAM1 MTOR KDR
12 renal cell carcinoma, nonpapillary 28.1 PECAM1 MTOR KDR FLT4
13 hemangioma 27.6 VWF PROX1 PECAM1 MTOR KDR GNA14
14 hemangioma-thrombocytopenia syndrome 11.9
15 angioma, tufted 11.9
16 rare vascular tumor 10.8
17 lymphangiomatosis 10.7
18 rare lymphatic malformation 10.5
19 fragile x syndrome 10.5
20 rare tumor 10.4
21 disseminated intravascular coagulation 10.4
22 spindle cell hemangioma 10.4
23 intestinal obstruction 10.4
24 pyogenic granuloma 10.4
25 lymphedema 10.4
26 leukemia 10.3
27 lymphoma 10.3
28 respiratory failure 10.3
29 obstructive jaundice 10.3
30 spindle cell sarcoma 10.3
31 hemolytic anemia 10.3
32 congenital hemangioma 10.3
33 chylothorax, congenital 10.2 PROX1 FLT4
34 coronary heart disease 1 10.2
35 hereditary lymphedema ii 10.2 PROX1 FLT4
36 stork bite 10.2 PROX1 FLT4
37 papillary adenofibroma 10.2 VWF CD34
38 polykaryocytosis inducer 10.2
39 aplasia cutis congenita, nonsyndromic 10.1
40 autoimmune disease 10.1
41 laryngomalacia 10.1
42 neurofibromatosis, type iv, of riccardi 10.1
43 rheumatoid arthritis 10.1
44 ascites, chylous 10.1
45 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
46 hydrops fetalis, nonimmune 10.1
47 yemenite deaf-blind hypopigmentation syndrome 10.1
48 human herpesvirus 8 10.1
49 hydrops, lactic acidosis, and sideroblastic anemia 10.1
50 hereditary lymphedema 10.1

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:



Diseases related to Kaposiform Hemangioendothelioma
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Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

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MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 FLI1 FLT4 KDR MTOR PECAM1 PROX1
2 cellular MP:0005384 9.87 CD34 FLI1 KDR MTOR PECAM1 PROX1
3 hematopoietic system MP:0005397 9.8 CD34 FLI1 KDR MTOR PECAM1 PROX1
4 immune system MP:0005387 9.76 CD34 FLI1 FLT4 KDR MTOR PECAM1
5 liver/biliary system MP:0005370 9.35 FLI1 FLT4 KDR PECAM1 PROX1
6 muscle MP:0005369 9.1 FLI1 FLT4 KDR MTOR PECAM1 PROX1
Sources

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2 Calcineurin Inhibitors Phase 4
3
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
7 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
8
Propranolol Approved, Investigational Phase 2 525-66-6 4946
9
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
10
tannic acid Approved Phase 2 1401-55-4
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
13
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
14
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
15
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
16 Anti-Arrhythmia Agents Phase 2
17 Neurotransmitter Agents Phase 2
18 Gastrointestinal Agents Phase 2
19 Adrenergic Antagonists Phase 2
20 Anti-Inflammatory Agents Phase 2
21 Antiemetics Phase 2
22 Adrenergic beta-Antagonists Phase 2
23 Methylprednisolone Acetate Phase 2
24 Protective Agents Phase 2
25 Neuroprotective Agents Phase 2
26 glucocorticoids Phase 2
27 Antineoplastic Agents, Hormonal Phase 2
28 Vasodilator Agents Phase 2
29 Hormone Antagonists Phase 2
30 Autonomic Agents Phase 2
31 Adrenergic Agents Phase 2
32 Hormones Phase 2
33 Antihypertensive Agents Phase 2
34 Immunosuppressive Agents Phase 2
35 Immunologic Factors Phase 2
36 Antifungal Agents Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Anti-Bacterial Agents Phase 2
39 Anti-Infective Agents Phase 2
40 Antimitotic Agents Phase 2
41 Mitogens
42 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study Recruiting NCT04056962 Phase 4 Tacrolimus ointment
2 Safety and Efficacy of Low-dose Sirolimus to Kaposiform Hemangioendothelioma:A Prospective, Randomized Open Trial Recruiting NCT04077515 Phase 4 Sirolimus(0.8mg/m2);Sirolimus(0.7mg/m2)
3 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
4 A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE). Active, not recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
5 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

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Genetic Tests for Kaposiform Hemangioendothelioma

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Anatomical Context for Kaposiform Hemangioendothelioma

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MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

40
Endothelial, Bone, Skin, Spleen, Tongue, Lymph Node, Thymus
Sources

Publications for Kaposiform Hemangioendothelioma

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Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 276)
# Title Authors PMID Year
1
Sirolimus Treatment of an Infant With Intrathoracic Kaposiform Hemangioendothelioma Complicated by Life-threatening Pleural and Pericardial Effusions. 61
30044355 2020
2
Endothelial cell malignancies in infants, children and adolescents: Treatment results of three Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry. 61
31814291 2019
3
Congenital hemangioma of the face-Value of fetal MRI with prenatal ultrasound. 61
31695833 2019
4
Sirolimus therapy for kaposiform hemangioendothelioma with long-term follow-up. 61
31489702 2019
5
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. 61
30372769 2019
6
Ultrasonography and magnetic resonance imaging features of kaposiform hemangioendothelioma and tufted angioma. 61
31373042 2019
7
Tacrolimus ointment for the treatment of superficial kaposiform hemangioendothelioma and tufted angioma. 61
31373046 2019
8
A not so harmless mass: Kaposiform hemangioendothelioma complicated by a Kasabach-Merritt phenomenon. 61
31353149 2019
9
Population pharmacokinetics of sirolimus in pediatric patients with kaposiform hemangioendothelioma: A retrospective study. 61
31452734 2019
10
Low dose sirolimus treatment for refractory tufted angioma and congenital kaposiform hemangioendothelioma, both with Kasabach-Merritt phenomenon. 61
31087627 2019
11
What is new in endothelial neoplasia? 61
31463731 2019
12
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences. 61
31277673 2019
13
A report on Kaposiform hemangioendothelioma in the cervical spine. 61
30896568 2019
14
Activation of Hedgehog Signaling in Aggressive Hepatic Hemangioma in Newborns and Infants. 61
31092427 2019
15
Pediatric facial kaposiform hemangioendothelioma: a case report and review of the literature. 61
31044058 2019
16
[Our experience with sirolimus for the treatment of complicated vascular anomalies]. 61
30714698 2019
17
Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam's Principle in an Adult with SBO. 61
31093393 2019
18
Pancreatic kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon: A rare entity. 61
31754542 2019
19
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in an infant: Successful treatment with prednisolone, vincristine, and addition of sirolimus. 61
30070028 2018
20
Vascular Anomalies. 61
30396415 2018
21
Kaposiform hemangioendothelioma without cutaneous involvement. 61
30293120 2018
22
Proliferative Cells From Kaposiform Lymphangiomatosis Lesions Resemble Mesenchyme Stem Cell-like Pericytes Defective in Vessel Formation. 61
30256265 2018
23
Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review. 61
30466240 2018
24
Diagnosis of congenital and acquired focal lesions in the neck, abdomen, and pelvis with contrast-enhanced ultrasound: a pictorial essay. 61
29971555 2018
25
Development of Kasabach-Merritt phenomenon following vaccination: More than a coincidence? 61
30118141 2018
26
Atypically presenting kaposiform hemangioendothelioma of the knee: ultrasound findings. 61
29637402 2018
27
First Intracardiac Kaposiform Hemangioendothelioma in an Infant Resolved With Sirolimus: A Case Report. 61
30067556 2018
28
Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm. 61
29975248 2018
29
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. 61
29999213 2018
30
Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options. 61
30054848 2018
31
Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract. 61
29554025 2018
32
Clinical and imaging features of Kaposiform Hemangioendothelioma. 61
29536769 2018
33
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin. 61
29240034 2018
34
Vascular Anomalies: From a Clinicohistologic to a Genetic Framework. 61
29697621 2018
35
Pneumocystis Jirovecii Pneumonia During Sirolimus Therapy for Kaposiform Hemangioendothelioma. 61
29610164 2018
36
Vascular Tumors in Infants: Case Report and Review of Clinical, Histopathologic, and Immunohistochemical Characteristics of Infantile Hemangioma, Pyogenic Granuloma, Noninvoluting Congenital Hemangioma, Tufted Angioma, and Kaposiform Hemangioendothelioma. 61
29561329 2018
37
A Case Report of 2 Sirolimus-Related Deaths Among Infants With Kaposiform Hemangioendotheliomas. 61
29610165 2018
38
Association between extremity kaposiform hemangioendothelioma and lymphedema. 61
29266383 2018
39
Musculoskeletal complication in kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon: clinical characteristics and management. 61
30233248 2018
40
Impact of sirolimus treatment for refractory kaposiform hemangioendothelioma with exacerbation of the disease 10 years after initial diagnosis. 61
29872523 2018
41
Successful Management of Kaposiform Hemangioendothelioma with Long-Term Sirolimus Treatment: a Case Report and Review of the Literature. 61
30002799 2018
42
Episode of Kasabach-Merritt phenomenon following Japanese encephalitis vaccination: Case report. 61
29050802 2017
43
[Acute complications of vascular anomalies in childhood]. 61
28815311 2017
44
Restricted Range of Motion and a Cold Upper Extremity in a Two-Year-Old Boy: Kaposiform Hemangioendothelioma of the Bone and the Brachial Plexus: A Case Report. 61
29286963 2017
45
Intestinal obstruction due to kaposiform hemangioendothelioma in a 1-month-old infant: A case report. 61
28906349 2017
46
Kaposiform hemangioendothelioma in an adult with rheumatoid arthritis. 61
29154372 2017
47
[Refractory kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: clinical analysis of 10 cases]. 61
28881518 2017
48
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 1: classification, sonographic approach and vascular tumors. 61
28779195 2017
49
Sirolimus for the treatment of progressive kaposiform hemangioendothelioma: A multicenter retrospective study. 61
28486787 2017
50
Four cases of pediatric deep-seated/subcutaneous pyogenic granuloma: Review of literature and differential diagnosis. 61
28233342 2017
Sources

Variations for Kaposiform Hemangioendothelioma

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ClinVar genetic disease variations for Kaposiform Hemangioendothelioma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNA14 NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)SNV Likely pathogenic 548667 rs1554685903 9:80043932-80043932 9:77429016-77429016
Sources

Expression for Kaposiform Hemangioendothelioma

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Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.
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Pathways for Kaposiform Hemangioendothelioma

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Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 63
Show member pathways
 12.63 MTOR KDR GNA14 FLT4
2
p70S6K Signaling 63
Show member pathways
 12.59 MTOR KDR GNA14 FLT4
3
PI3K-Akt signaling pathway 36
Show member pathways
 12.39 VWF MTOR KDR FLT4
4
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.12 MTOR KDR FLT4
5
Apoptosis Pathway 70
Show member pathways
 11.97 MTOR KDR FLT4
6
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 11.86 MTOR KDR FLT4
7
ECM-receptor interaction 36
Show member pathways
 11.52 VWF PECAM1 KDR
8
Vemurafenib Pathway, Pharmacodynamics 60
11.09 KDR FLT4
9
Angiogenesis (CST) 4
10.97 VWF PROX1 PECAM1 KDR FLT4
10
Pazopanib Pathway, Pharmacokinetics 60
Show member pathways
 10.85 KDR FLT4
11
VEGF binds to VEGFR leading to receptor dimerization 65
Show member pathways
 10.16 KDR FLT4
Sources

GO Terms for Kaposiform Hemangioendothelioma

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Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.72 PECAM1 KDR FLT4
2 extracellular matrix organization GO:0030198 9.7 VWF PECAM1 KDR
3 protein autophosphorylation GO:0046777 9.67 MTOR KDR FLT4
4 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.54 KDR FLT4
5 sprouting angiogenesis GO:0002040 9.51 KDR FLT4
6 vascular endothelial growth factor signaling pathway GO:0038084 9.48 KDR FLT4
7 endothelial cell differentiation GO:0045446 9.46 PROX1 KDR
8 lymphangiogenesis GO:0001946 9.43 PROX1 FLT4
9 positive regulation of endothelial cell migration GO:0010595 9.43 PROX1 KDR FLT4
10 lymph vessel development GO:0001945 9.4 PROX1 FLT4
11 positive regulation of vasculogenesis GO:2001214 9.37 KDR CD34
12 endothelium development GO:0003158 9.32 KDR CD34
13 positive regulation of protein phosphorylation GO:0001934 9.26 PECAM1 MTOR KDR FLT4
14 glomerular endothelium development GO:0072011 9.16 PECAM1 CD34
15 positive regulation of endothelial cell proliferation GO:0001938 8.92 PROX1 MTOR KDR FLT4

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 9.16 KDR FLT4
2 vascular endothelial growth factor binding GO:0038085 8.96 KDR FLT4
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 KDR FLT4
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Sources for Kaposiform Hemangioendothelioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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